A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome

De novo mutations (DNMs) are increasingly recognized as rare disease causal factors. Identifying DNM carriers will allow researchers to study the likely distinct molecular mechanisms of DNMs. We developed Famdenovo to predict DNM status (DNM or familial mutation [FM]) of deleterious autosomal domina...

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Detalles Bibliográficos
Autores principales: Gao, Fan, Pan, Xuedong, Dodd-Eaton, Elissa B., Recio, Carlos Vera, Montierth, Matthew D., Bojadzieva, Jasmina, Mai, Phuong L., Zelley, Kristin, Johnson, Valen E., Braun, Danielle, Nichols, Kim E., Garber, Judy E., Savage, Sharon A., Strong, Louise C., Wang, Wenyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462073/
https://www.ncbi.nlm.nih.gov/pubmed/32817165
http://dx.doi.org/10.1101/gr.249599.119

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